title: Ten novel mutations of the ornithine transcarbamylase (OTC) gene in OTC deficiency.
authors.affiliation: Department of Genetics, Mitsubishi Kagaku Bio-clinical Laboratories, Itabashi, Shimura, Japan.
authors.forename: M
authors.initials: M
authors.lastname: Shimadzu
authors.forename: H
authors.initials: H
authors.lastname: Matsumoto
authors.forename: T
authors.initials: T
authors.lastname: Matsuura
authors.forename: K
authors.initials: K
authors.lastname: Kobayashi
authors.forename: S
authors.initials: S
authors.lastname: Komaki
authors.forename: K
authors.initials: K
authors.lastname: Kiwaki
authors.forename: R
authors.initials: R
authors.lastname: Hoshide
authors.forename: F
authors.initials: F
authors.lastname: Endo
authors.forename: T
authors.initials: T
authors.lastname: Saheki
authors.forename: I
authors.initials: I
authors.lastname: Matsuda
mesh_terms: D017668:Age of Onset; D000595:Amino Acid Sequence; D001483:Base Sequence; D004247:DNA / Q000737:chemistry / Q000235:genetics; D004252:DNA Mutational Analysis; D018076:DNA, Complementary / Q000737:chemistry / Q000235:genetics; D005260:Female; D006801:Humans; D008297:Male; D016254:Mutagenesis, Insertional; D009154:Mutation; D020125:Mutation, Missense; D009954:Ornithine Carbamoyltransferase / Q000235:genetics*; D020163:Ornithine Carbamoyltransferase Deficiency Disease; D017354:Point Mutation; D017384:Sequence Deletion
chemical_list: D018076:DNA, Complementary; D004247:DNA; D009954:Ornithine Carbamoyltransferase